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2024-03-23T02:04:44Z
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Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
10.1111/cge.13003
28255985
000407911700009
Peña-Quintana
L.
author
Scherer
G.
author
Curbelo-Estévez
M.L.
author
Jiménez-Acosta
F.
author
Hartmann
B.
author
La Roche
F.
author
Meavilla-Olivas
S.
author
Pérez-Cerdá
C.
author
García-Segarra
N.
author
Giguère
Y.
author
Huppke
P.
author
Mitchell
G.A.
author
Mönch
E.
author
Trump
D.
author
Vianey-Saban
C.
author
Trimble
E.R.
author
Vitoria-Miñana
I.
author
Reyes-Suárez
D.
author
Ramírez-Lorenzo
T.
author
Tugores
A.
author
article
2017-09
2017-09
Clinical genetics
1399-0004
0009-9163
journal
92
3
306-317
Adolescent
Age of Onset
Alleles
Child
Child, Preschool
Female
Founder Effect
Genetic Association Studies
Genetic Loci
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Tyrosine Transaminase/genetics
Tyrosinemias/diagnosis
Tyrosinemias/diet therapy
Tyrosinemias/genetics
Young Adult
Richner-Hanhart
TAT
genetics
tyrosinemia
eng
60_published
peer-reviewed
Publication types: Journal Article
Publication Status: ppublish